ODCs

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1 OMIM reference -
2 associated genes
11 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
18 signs/symptoms

Brachydactyly type C

Acromesomelic dysplasia, Hunter-Thomson type

BMPR1B	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
GDF5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1B	(0.9)	GDF5

Citations in the biomedical literature:

Brachydactyly type C		Acromesomelic dysplasia, Hunter-Thomson type
	Synonym(s): (no synonyms)		Synonym(s): - Acromesomelic dwarfism

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537093		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Short hand / brachydactyly - Short stature / dwarfism / nanism

Brachydactyly type C		Acromesomelic dysplasia, Hunter-Thomson type
	Very frequent - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Ulnar deviation of fingers Frequent - Cone epiphyses / epiphysis - Short foot / brachydactyly of toes - Thin / hypoplastic / hyperconvex fingernails Occasional - Clinodactyly of fifth finger - Symphalangy of fingers - Talipes-valgus		Very frequent - Ankle anomalies - Autosomal recessive inheritance - Elbow dislocation - Irregular length / shape of fingers - Mesomelic micromelia - Simian crease / transverse / unique palmar crease - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tarsal anomaly / fusion / synostosis - Thumb hypoplasia / aplasia / absence Frequent - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Intellectual deficit / mental / psychomotor retardation / learning disability - Patella dislocation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Wrist / carpal anomalies